DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs1057519465 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs1057519465

rs1057519465

HEXA

0.925

0.160

15

72346598

stop gained

C/T

snv

4.0E-06

CUI:	C2216370
Disease:	Cherry red spot of the macula

Cherry red spot of the macula

0.700

dbSNP:

rs1057519465

rs1057519465

HEXA

0.925

0.160

15

72346598

stop gained

C/T

snv

4.0E-06

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.700

dbSNP:

rs1057519465

rs1057519465

HEXA

0.925

0.160

15

72346598

stop gained

C/T

snv

4.0E-06

CUI:	C1836830
Disease:	Developmental regression

Developmental regression

0.700

dbSNP:

rs1057519465

rs1057519465

HEXA

0.925

0.160

15

72346598

stop gained

C/T

snv

4.0E-06

CUI:	C0036572
Disease:	Seizures

Seizures

0.700

dbSNP:

rs1057519465

rs1057519465

HEXA

0.925

0.160

15

72346598

stop gained

C/T

snv

4.0E-06

CUI:	C4022770
Disease:	Abnormal thalamic MRI signal intensity

Abnormal thalamic MRI signal intensity

0.700

dbSNP:

rs1057519465

rs1057519465

HEXA

0.925

0.160

15

72346598

stop gained

C/T

snv

4.0E-06

CUI:	C0039373
Disease:	Tay-Sachs Disease

Tay-Sachs Disease

0.700

dbSNP:

rs1057519465

rs1057519465

HEXA

0.925

0.160

15

72346598

stop gained

C/T

snv

4.0E-06

CUI:	C0034880
Disease:	Hyperacusis

Hyperacusis

0.700